ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser)

gnomAD frequency: 0.00080  dbSNP: rs138045351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904346 SCV001048860 likely benign Multiple sulfatase deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975766 SCV004793603 likely benign SUMF1-related condition 2022-04-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000904346 SCV001460620 likely benign Multiple sulfatase deficiency 2020-04-23 no assertion criteria provided clinical testing

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